Variant calling

Variant filtering

Trainers: Chiara Batini

Overview: This lecture describes variant calling and filtering, going into more depth about the anatomy of a VCF file, and how to use it.

Learning outcomes:

By the end of this session you will be able to:

• Define variant calling and filtering
• Recall the different components of a VCF file and their purpose

Materials:

• Presentation slides
• Video recording

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Introduction to somatic evolution

Trainers: Raheleh Rahbari

Overview: This lecture provides an overview of the phenomenon of somatic evolution.

Learning outcomes:

By the end of this session you will be able to:

• Define somatic evolution
• Explain the ways in which sequencing can aid understanding of somatic evolution

Materials:

• Presentation slides
• Video recording

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Variant calling SVs & CNVs

Trainers: Maxime Tarabachi

Overview: This lecture provides an overview on Structural variants and Copy number variants in genome analysis. The practical provides training on copy-number calling using ASCAT and structural variant calling using GRIDSS2.

Learning outcomes:

By the end of this session you will be able to:

• Define structural and copy number variants
• Identify structural and copy number variants using ASCAT and GRIDSS2 respectively

Materials:

• Presentations slides
• Practical exercise
• Training data and materials for practical